Distribution of MEFV gene mutations parameters in patients with familial Mediterranean fever

Introduction: FMF is a genetic disorder characterized by recurrent episodes of fever and inflammation, primarily affecting individuals of Mediterranean origin. The disease is caused by mutations in the MEFV gene, which exhibit variations in their distribution among different populations. The identification of specific mutations is critical for the diagnosis, management, and genetic counseling of FMF patients.Material and Methods: Blood samples were collected from each participant for genetic analysis. Genomic DNA was extracted from the blood samples using a standard DNA extraction kit. The extracted DNA was then subjected to polymerase chain reaction (PCR) amplification of the MEFV gene exons using specific primers. The PCR products were sequenced using Sanger sequencing technology to identify the presence of mutations in the MEFV geneResults: The association between the presence of mutations in the MEFV gene and clinical manifestations was further analyzed using chi-square tests. The results indicated a statistically significant association between the M۶۹۴V mutation and the presence of fever episodes (p<۰.۰۰۱), abdominal pain (p<۰.۰۰۱), and joint involvement (p<۰.۰۰۱). Similarly, the V۷۲۶A mutation was significantly associated with the presence of fever episodes (p<۰.۰۰۱), abdominal pain (p<۰.۰۰۱), and joint involvement (p<۰.۰۰۱).Conclusion: our study provides valuable insights into the distribution of MEFV gene mutations in patients with FMF. The identification of specific mutations and their association with clinical manifestations contributes to a better understanding of FMF pathogenesis and can aid in the diagnosis and management of affected individuals. The M۶۹۴V, V۷۲۶A, M۶۸۰I, and E۱۴۸Q mutations were the most common mutations observed, with the majority of mutations located in exon ۱۰ of the MEFV geneencoding the B۳۰.۲ domain of the pyrin protein.

Keywords:

MEFV gene , mutations , Familial Mediterranean fever , Ardabil